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Human Genome Variation

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https://www.readbyqxmd.com/read/28224043/pleiotropic-effect-of-a-novel-mutation-in-gcnt2-causing-congenital-cataract-and-a-rare-adult-i-blood-group-phenotype
#1
Sek-Shir Cheong, Sarah Hull, Benjamin Jones, Ravinder Chana, Nicole Thornton, Vincent Plagnol, Anthony T Moore, Alison J Hardcastle
Mutations in GCNT2 have been associated with the rare adult i blood group phenotype with or without congenital cataract. We report a novel homozygous frameshift mutation c.1163_1166delATCA, p.(Asn388Argfs*20) as the cause of congenital cataract in two affected siblings. Blood group typing confirmed that both affected males have the rare adult i phenotype, supporting the hypothesis that the partial association of I/i phenotype and congenital cataract is due to the differential expression of GCNT2 isoforms.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28224042/a-new-mutation-found-in-newborn-screening-for-fabry-disease-evaluated-by-plasma-globotriaosylsphingosine-levels
#2
Yasutsugu Chinen, Sadao Nakamura, Tomohide Yoshida, Hiroki Maruyama, Kimitoshi Nakamura
A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28224041/a-7q31-33q32-1-microdeletion-including-lrrc4-and-grm8-is-associated-with-severe-intellectual-disability-and-characteristics-of-autism
#3
Noriko Sangu, Keiko Shimojima, Yuya Takahashi, Tsukasa Ohashi, Jun Tohyama, Toshiyuki Yamamoto
A 4-year-old boy with severe intellectual disability (ID) and characteristics of autism was found to have a de novo 1.9-Mb microdeletion in 7q31.33q32.1, in which LRRC4, GRM8, and 11 other genes were included. GRM8 is associated with attention deficit hyperactivity disorder. LRRC4 is related to synaptic cell adhesion molecules, some of which are associated with autism. The deletion of LRRC4 may be responsible for the severe ID and characteristics of autism observed in the present patient.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28144448/a-novel-slc34a2-mutation-in-a-patient-with-pulmonary-alveolar-microlithiasis
#4
Hiroki Izumi, Jun Kurai, Masahiro Kodani, Masanari Watanabe, Akihiro Yamamoto, Eiji Nanba, Kaori Adachi, Tadashi Igishi, Eiji Shimizu
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year-old Japanese female and identified a novel mutation in SLC34A2 (c.1390 G>C [G464R] in exon 12).
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28144447/whole-exome-sequencing-analysis-of-supernumerary-teeth-occurrence-in-japanese-individuals
#5
Masahiro Takahashi, Kazuyoshi Hosomichi, Tetsutaro Yamaguchi, Keisuke Yano, Takahiro Funatsu, Mohamed Adel, Shugo Haga, Koutaro Maki, Atsushi Tajima
A common disorder of human dentition is the existence of supernumerary teeth. Impacted supernumerary teeth occur most frequently in the maxillary incisor area and are termed mesiodens. We conducted whole-exome sequencing of non-syndromic Japanese individuals possessing supernumerary teeth to identify genes and/or loci involved in the pathogenesis of the condition.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28144446/genome-first-approach-diagnosed-cabezas-syndrome-via-novel-cul4b-mutation-detection
#6
Nobuhiko Okamoto, Miki Watanabe, Takuya Naruto, Keiko Matsuda, Tomohiro Kohmoto, Masako Saito, Kiyoshi Masuda, Issei Imoto
Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28101371/a-novel-plp1-mutation-f240l-identified-in-a-patient-with-connatal-type-pelizaeus-merzbacher-disease
#7
Yongping Lu, Keiko Shimojima, Tomoko Sakuma, Sachiko Nakaoka, Toshiyuki Yamamoto
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive hypomyelination disorder caused by mutations in the proteolipid protein 1 gene (PLP1) located on chromosome Xq22. A male patient showed severe developmental delay, pendular nystagmus and laryngeal wheezing. The auditory brain stem response showed only the first wave and brain magnetic resonance imaging showed white matter hypomyelination, suggesting typical PMD. A novel PLP1 mutation, F240L, which was inherited from his mother, was identified.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28018608/digenic-mutations-of-human-ocrl-paralogs-in-dent-s-disease-type-2-associated-with-chiari-i-malformation
#8
Daniel Duran, Sheng Chih Jin, Tyrone DeSpenza, Carol Nelson-Williams, Andrea G Cogal, Elizabeth W Abrash, Peter C Harris, John C Lieske, Serena Je Shimshak, Shrikant Mane, Kaya Bilguvar, Michael L DiLuna, Murat Günel, Richard P Lifton, Kristopher T Kahle
OCRL1 and its paralog INPP5B encode phosphatidylinositol 5-phosphatases that localize to the primary cilium and have roles in ciliogenesis. Mutations in OCRL1 cause the X-linked Dent disease type 2 (DD2; OMIM# 300555), characterized by low-molecular weight proteinuria, hypercalciuria, and the variable presence of cataracts, glaucoma and intellectual disability without structural brain anomalies. Disease-causing mutations in INPP5B have not been described in humans. Here, we report the case of an 11-year-old boy with short stature and an above-average IQ; severe proteinuria, hypercalciuria and osteopenia resulting in a vertebral compression fracture; and Chiari I malformation with cervico-thoracic syringohydromyelia requiring suboccipital decompression...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/28018607/novel-wisp3-mutations-causing-progressive-pseudorheumatoid-dysplasia-in-two-chinese-families
#9
Wenjin Yan, Jin Dai, Zhihong Xu, Dongquan Shi, Dongyang Chen, Xingquan Xu, Kai Song, Yao Yao, Lan Li, Shiro Ikegawa, Huajian Teng, Qing Jiang
Progressive pseudorheumatoid dysplasia (PPD) is a rare disease caused by mutations in the gene for Wnt1-inducible signaling pathway protein 3 (WISP3). Here, we report the clinical and radiographic manifestations of two Chinese PPD patients. We performed whole-exome sequencing for one patient and sequenced the WISP3 for the other. Three WISP3 mutations (c.396T>G, c.721T>G and c.679dup) were identified; the two missense mutations were novel. Our study expanded the WISP3 mutation spectrum.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27917293/alternative-splicing-of-a-cryptic-exon-embedded-in-intron-6-of-smn1-and-smn2
#10
Satomi Yoshimoto, Nur Imma Fatimah Harahap, Yuko Hamamura, Mawaddah Ar Rochmah, Ai Shima, Naoya Morisada, Masakazu Shinohara, Toshio Saito, Kayoko Saito, Poh San Lai, Masafumi Matsuo, Hiroyuki Awano, Ichiro Morioka, Kazumoto Iijima, Hisahide Nishio
Both survival of motor neuron (SMN) genes are associated with spinal muscular atrophy; mutations in SMN1 cause the disease, and SMN2 modulates its severity. It is established that different alternative splicing of exon 7 occurs for SMN1 and SMN2, and a cryptic exon was recently found in intron 6 of both genes. Here, we characterize this cryptic exon and clarify its alternative splicing pattern in control and spinal muscular atrophy cells.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27917292/deep-resequencing-of-cftr-in-762-f508del-homozygotes-reveals-clusters-of-non-coding-variants-associated-with-cystic-fibrosis-disease-traits
#11
Briana Vecchio-Pagán, Scott M Blackman, Melissa Lee, Melis Atalar, Matthew J Pellicore, Rhonda G Pace, Arianna L Franca, Karen S Raraigh, Neeraj Sharma, Michael R Knowles, Garry R Cutting
Extensive phenotypic variability is commonly observed in individuals with Mendelian disorders, even among those with identical genotypes in the disease-causing gene. To determine whether variants within and surrounding CFTR contribute to phenotypic variability in cystic fibrosis (CF), we performed deep sequencing of CFTR in 762 patients homozygous for the common CF-causing variant, F508del. In phase 1, ~200 kb encompassing CFTR and extending 10 kb 5' and 5 kb 3' of the gene was sequenced in 486 F508del homozygotes selected from the extremes of sweat chloride concentration...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27917291/mutations-in-phosphodiesterase-6-identified-in-familial-cases-of-retinitis-pigmentosa
#12
Inayat Ullah, Firoz Kabir, Clare Brooks S Gottsch, Muhammad Asif Naeem, Aditya A Guru, Radha Ayyagari, Shaheen N Khan, Sheikh Riazuddin, Javed Akram, S Amer Riazuddin
To delineate the genetic determinants associated with retinitis pigmentosa (RP), a hereditary retinal disorder, we recruited four large families manifesting cardinal symptoms of RP. We localized these families to regions on the human genome harboring the α and β subunits of phosphodiesterase 6 and identified mutations that were absent in control chromosomes. Our data suggest that mutations in PDE6A and PDE6B are responsible for the retinal phenotype in these families.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27867521/exome-first-approach-identified-a-novel-gloss-deletion-associated-with-lowe-syndrome
#13
Miki Watanabe, Ryuji Nakagawa, Tomohiro Kohmoto, Takuya Naruto, Ken-Ichi Suga, Aya Goji, Hideaki Horikawa, Kiyoshi Masuda, Shoji Kagami, Issei Imoto
Lowe syndrome (LS) is an X-linked disorder affecting the eyes, nervous system and kidneys, typically caused by missense or nonsense/frameshift OCRL mutations. We report a 6-month-old male clinically suspected to have LS, but without the Fanconi-type renal dysfunction. Using a targeted-exome sequencing-first approach, LS was diagnosed by the identification of a deletion involving 1.7 Mb at Xq25-q26.1, encompassing the entire OCRL gene and neighboring loci.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27790376/distal-arthrogryposis-with-variable-clinical-expression-caused-by-tnni2-mutation
#14
Vida Čulić, Noriko Miyake, Sunčana Janković, Davor Petrović, Marko Šimunović, Tomislav Đapić, Masaaki Shiina, Kazuhiro Ogata, Naomichi Matsumoto
Distal arthrogryposis (DA) is a clinically and genetically heterogeneous disorder with multiple joint contractures. We describe a female DA patient with hand and foot deformities, and right-sided torticollis. Using exome sequencing, we identified a novel TNNI2 mutation (c.485>A, p.Arg162Lys) in the patient and her father. The father has no typical DA but hip dysplasia. This may explain the clinical features of DA2B in this family, but with variable clinical expression.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27790375/novel-heterozygous-mutation-in-the-extracellular-domain-of-fgfr1-associated-with-hartsfield-syndrome
#15
Masaki Takagi, Tatsuya Miyoshi, Yuka Nagashima, Nao Shibata, Hiroko Yagi, Ryuji Fukuzawa, Tomonobu Hasegawa
Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. To date, more than 200 mutations in FGFR1 have been described; however, only 10 HS-associated mutations have been reported thus far. We describe a case of typical HS with hypogonadotropic hypogonadism (HH) harboring a novel heterozygous mutation, p.His253Pro, in the extracellular domain of FGFR1...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27790374/loss-of-function-mutations-and-global-rearrangements-in-gpc3-in-patients-with-simpson-golabi-behmel-syndrome
#16
Keiko Shimojima, Yumiko Ondo, Eriko Nishi, Seiji Mizuno, Miharu Ito, Aya Ioi, Mariko Shimizu, Maho Sato, Masami Inoue, Nobuhiko Okamoto, Toshiyuki Yamamoto
Simpson-Golabi-Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were identified. A female sibling of the patient, who presented with a cleft palate and hepatoblastoma, carries the same chromosomal rearrangement and a paradoxical pattern of X-chromosome inactivation. These findings support variable GPC3 alterations, with a possible mechanism in female patients...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27766163/krit1-mutations-in-three-japanese-pedigrees-with-hereditary-cavernous-malformation
#17
Kengo Hirota, Hiroyuki Akagawa, Asami Kikuchi, Hideki Oka, Akihiko Hino, Tetsuryu Mitsuyama, Toshiyuki Sasaki, Hideaki Onda, Takakazu Kawamata, Hidetoshi Kasuya
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27766162/maternal-mosaicism-for-idua-deletion-clarifies-recurrence-risk-in-mps-i
#18
Catherine Breen, Jean Mercer, Simon A Jones, Amir Jahic, Lesley Heptinstall, Karen Tylee, William G Newman, Christian Beetz
Mucopolysaccharidosis I (MPS I) is a rare autosomal recessive multisystem lysosomal storage disorder. It is caused by biallelic loss-of-function variants in IDUA, encoding alpha-l iduronidase. Here, we describe an individual affected by MPS I due to a paternally inherited deletion of IDUA exons 1 and 2, c.(?_-88)_(299+1_300-1)del and a whole-gene deletion of IDUA (?_-88?)_(*136?)del secondary to maternal somatic mosaicism. We define a previously unreported mutational mechanism for this disorder.
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27656288/a-novel-missense-mutation-of-col5a2-in-a-patient-with-ehlers-danlos-syndrome
#19
Miki Watanabe, Ryuji Nakagawa, Takuya Naruto, Tomohiro Kohmoto, Ken-Ichi Suga, Aya Goji, Shoji Kagami, Kiyoshi Masuda, Issei Imoto
Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393...
2016: Human Genome Variation
https://www.readbyqxmd.com/read/27656287/a-12p13-grin2b-deletion-is-associated-with-developmental-delay-and-macrocephaly
#20
Naoya Morisada, Tomoaki Ioroi, Mariko Taniguchi-Ikeda, Ming Juan Ye, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kazumoto Iijima
N-methyl D-aspartate receptor subtype 2B (GluN2B), encoded by GRIN2B, is one of the components of the N-methyl D-aspartate receptor protein. Aberrations in GRIN2B have been reported to be responsible for various types of neurodevelopmental disorders. We report a Japanese boy with an ~2 Mb interstitial deletion in 12p13 involving the entire GRIN2B gene, who presented with intellectual disability, motor developmental delay and marked macrocephaly.
2016: Human Genome Variation
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