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Clinical Genetics

E Brischoux-Boucher, Aurélien Trimouille, G Baujat, A Goldenberg, E Schaefer, B Guichard, P Hannequin, G Paternoster, S Baer, C Cabrol, E Weber, G Godfrin, M Lenoir, D Lacombe, C Collet, L Van Maldergem
By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon-like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified 6 missense mutations in IL11RA, a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig-like C2-type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility...
June 21, 2018: Clinical Genetics
J Moran, K G Sanderson, J Maynes, A Vig, V Batmanabane, P Kannu, E Tavares, A Vincent, E Heon
Ciliopathies, a growing pleotropic class of diseases due to mutations in genes that play an important role in primary cilia function. These highly conserved organelles are key to cell signaling. We now know, that mutations in one gene may lead to more than one ciliopathy phenotype and that one ciliopathy phenotype may be due to mutations in more than one gene. We studied the case of a female child with a novel ciliopathy phenotype and identified two novel mutations in the gene IFT80. Previously, mutations in IFT80 have been associated with a very narrow rib cage and failure of the lungs...
June 20, 2018: Clinical Genetics
J A Ruskey, S Zhou, R Santiago, L-A Franche, A Alam, L Roncière, D Spiegelman, E A Fon, J-F Trempe, L V Kalia, R B Postuma, N Dupre, G-E Rivard, S Assouline, D Amato, Z Gan-Or
Biallelic GBA mutations cause Gaucher disease (GD), and heterozygous carriers are at risk for synucleinopathies. No founder GBA mutations in French-Canadians are known. GBA was fully sequenced using targeted next generation and Sanger sequencing in French-Canadian Parkinson disease (PD) patients (n=436), REM-sleep behavior disorder (RBD) patients (n=189) and controls (n=891). Haplotype, identity by descent (IBD) and principal component analyses (PCA) were performed using SNP-chip data. Data on GD patients from Toronto and Montreal were collected from patients' files...
June 19, 2018: Clinical Genetics
M J Geerlings, E B Volokhina, E K de Jong, N van de Kar, M Pauper, C B Hoyng, L P van den Heuvel, A I den Hollander
Genetic alterations in the complement system have been linked to a variety of diseases, including atypical hemolytic uremic syndrome (aHUS), C3 glomerulopathy (C3G), and age-related macular degeneration (AMD). We performed sequence analysis of the complement genes CFH, CFI, and C3 in 866 aHUS/C3G and 697 AMD patients. In total we identified 505 low frequency alleles, representing 121 unique variants, of which 51 are novel. CFH contained the largest number of unique low frequency variants (n=64; 53%), followed by C3 (n=32; 26%) and CFI (n=25; 21%)...
June 11, 2018: Clinical Genetics
D F Vears, E Niemiec, H C Howard, P Borry
Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results...
June 10, 2018: Clinical Genetics
T Okazaki, Y Saito, T Hayashida, S Akaboshi, N Miyake, N Matsumoto, N Kasagi, K Adachi, Y Shinohara, E Nanba, Y Maegaki
LAMB1 gene analysis should be considered for intellectually disabled patients with cerebellar cysts, white matter signal change, and cortical malformation. Muscular involvement is absent, in contrast to the α-dystroglycanopathy types of congenital muscular dystrophies.
June 10, 2018: Clinical Genetics
H Hengel, R Keimer, W Deigendesch, A Rieß, H Marzouqa, J Zaidan, P Bauer, L Schöls
Various genetic defects can cause intellectual and developmental disabilities (IDD). Often IDD is a symptom of a more complex neurodevelopmental or neurodegenerative syndrome. Identifying syndromic patterns is substantive for diagnostics and for understanding the pathomechanism of a disease. Recessive GPT2 mutations have recently been associated with IDD in four families. Here, we report a novel recessive GPT2 stop mutation p.Gln24* causing a complex IDD phenotype in a homozygous state in five patients from two consanguineous Arab families...
June 7, 2018: Clinical Genetics
Y A Ito, A C Smith, K D Kernohan, I A Pena, A Ahmed, L M McDonell, C Beaulieu, D E Bulman, A Smidt, S L Sawyer, D A Dyment, K M Boycott, C L Clericuzio
A novel autosomal recessive disorder characterized by pre- and post-natal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in four children from three families of New Mexican Hispanic heritage. Three of the children died before three years of age from uremia and/or sepsis. Exome sequencing of the surviving individual identified a homozygous c...
May 30, 2018: Clinical Genetics
N Kalnak, S Stamouli, M Peyrard-Janvid, I Rabkina, M Becker, T Klingberg, J Kere, H Forssberg, K Tammimies
Developmental Language Disorder (DLD) is a common neurodevelopmental disorder with largely unknown etiology. Rare copy number variants (CNVs) have been implicated in the genetic architecture of other neurodevelopmental disorders (NDDs) which have led to clinical genetic testing recommendations for these disorders; however, the evidence is still lacking for DLD. We analyzed rare and de novo CNVs in 58 probands with severe DLD, their 159 family members and 76 Swedish typically developing children using high-resolution microarray...
May 30, 2018: Clinical Genetics
J Suleiman, A M Al Hashem, B Tabarki, K Al-Thihli, W Bi, A W El-Hattab
We present three children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T (p.Arg697*). A 2-year-old boy had profound developmental delay, weakness and hypotonia, recurrent chest infections and respiratory distress, undescended testes, rotatory nystagmus, hyporeflexia, and a homozygous nonsense variant c...
May 28, 2018: Clinical Genetics
E Imagawa, Y Yamamoto, S Mitsuhashi, B Isidor, T Fukuyama, M Kato, M Sasaki, S Tanabe, S Miyatake, T Mizuguchi, A Takata, N Miyake, N Matsumoto
Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (NMIHBA) (OMIM #617481) is an autosomal recessive disease characterized by progressive microcephaly, plagiocephaly, hypotonia, spastic quadriparesis, global developmental delay, intellectual disability, optic features and abnormal brain MRI. NMIHBA was recently reported to be caused by PRUNE1 mutations. Eight mutations have been reported in 13 unrelated families. Here we report three PRUNE1 mutations in one Caucasian and three Japanese families...
May 24, 2018: Clinical Genetics
S Thakur, R Gupta, B Tiwari, N Singh, K K Saxena
Pallister Killian syndrome is a multi-system sporadic disorder with developmental delay. It is a rare chromosomal abnormality involving supernumerary isochormosome 12p. The disorder exhibits tissue specific mosaicism. The first prenatal diagnosis of PKS was reported by Gilgenkrantz et al. in 1985 after ultrasound detection of fetal anomalies. Since this observation, there have been about 62 reports of fetuses with PKS In this review we cover the prenatal aspects of PKS. This article is protected by copyright...
May 22, 2018: Clinical Genetics
K-Y Jih, C-P Chung, Y-Y Chang, P-L Hung, B-W Soong, Y-C Liao, M-Y Lan, Y-C Lee
No abstract text is available yet for this article.
May 22, 2018: Clinical Genetics
K Hamanaka, K Takahashi, S Miyatake, S Mitsuhashi, H Hamanoue, Y Miyaji, R Fukai, H Doi, A Fujita, E Imagawa, K Iwama, M Nakashima, T Mizuguchi, A Takata, N Miyake, H Takeuchi, F Tanaka, N Matsumoto
No abstract text is available yet for this article.
May 21, 2018: Clinical Genetics
T Jiang, M Huang, T Jiang, Y Gu, Y Wang, Y Wu, H Ma, G Jin, J Dai, Z Hu
Genome-wide association studies (GWASs) have achieved great success in deciphering the genetic cause of congenital heart disease (CHD). However, the heritability of CHD remains to be clarified, and numerous genetic factors responsible for occurrence of CHD are yet unclear. In this study, we performed a genome-wide search for relaxed forms of compound heterozygosity (CH) in association with CHD using our existing GWAS data including 2,265 individuals (957 CHD cases and 1,308 controls). CollapsABEL was used to iteratively test the association between the CH genotype and CHD phenotype in a sliding window manner...
May 17, 2018: Clinical Genetics
J Lévy, S Grotto, C Mignot, C Dupont, A Delahaye, B Benzacken, B Keren, D Haye, J Xavier, M Heulin, E Charles, A Verloes, A Maruani, E Pipiras, A-C Tabet
NR4A2, a member of the nuclear receptor superfamily, is involved in modulation of target gene transcription, regulating several developmental processes such as regulation of cellular homeostasis, neuronal development, inflammation and carcinogenesis. 2q24.1 deletions are extremely rare and only one patient with a de novo deletion encompassing only NR4A2 gene was reported so far. We report three additional patients with a de novo deletion encompassing NR4A2: two patients have deletions encompassing only NR4A2 gene and one patient has a deletion including NR4A2 and the first exon of GPD2...
May 16, 2018: Clinical Genetics
J A N Meester, A Verstraeten, M Alaerts, D Schepers, L Van Laer, B L Loeys
The NOTCH signalling pathway is an essential pathway, involved in many cellular processes, including cell fate decision, cell proliferation, and cell death and important in the development of most organs. Mutations in genes encoding components of the NOTCH signalling pathway lead to a spectrum of congenital disorders. Over the past decades mutations in human NOTCH signalling genes have been identified in several diseases with cardiovascular involvement. NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome...
May 16, 2018: Clinical Genetics
K Borle, E Morris, A Inglis, J Austin
Providing recurrence numbers is often considered a fundamental component of genetic counselling. We sought to fill knowledge gaps regarding how often patients actively seek recurrence numbers, and how they impact patient outcomes. We conducted a retrospective chart review at a clinic where patients routinely complete the Genetic Counselling Outcomes Scale [GCOS, measuring empowerment] pre (T1)/post (T2)-appointment. Using ANCOVA we evaluated the effect on T2 GCOS score of: a) receiving recurrence numbers, and b) patient perception of recurrence numbers...
May 16, 2018: Clinical Genetics
L E Almaguer-Mederos, J M L Mesa, Y González-Zaldívar, D Almaguer-Gotay, D Cuello-Almarales, R Aguilera-Rodríguez, N S Falcón, S Gispert, G Auburger, L Velázquez-Pérez
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a CAG/CAA repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (LNA, Q24-31) were significantly more unstable upon maternal transmissions. In contrast, expanded alleles (EA, Q32-750) were significantly more unstable during paternal transmissions, in correlation with repeat length...
May 14, 2018: Clinical Genetics
S Laboureau, A Guichet, T Duriez, C Veyrat-Durebex, N Bouzamondo, C Briet, D Mirebeau-Prunier
Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a TMEM127 variant. This rare homozygous mutation does not seem to aggravate the clinical picture of the disease compared to heterozygous mutations.
May 11, 2018: Clinical Genetics
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