Results 131 to 140 of about 436,684 (219)

A c.89G>C p.(Gly30Ala) Variant in the DHCR7 Gene as a Cause of a Mild Phenotype in the Smith‐Lemli‐Opitz Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
Smith‐Lemli‐Opitz syndrome (SLOS) is an autosomal recessive disorder caused by pathogenic variants in the DHCR7 gene. Based on our observations and a review of the literature, we demonstrate that the NM_001360.2(DHCR7):c.89G>C p.(Gly30Ala) variant is associated with a mild SLOS phenotype.
Júlia Martinková, Emílie Vyhnálková, Martin Schwarz, Miroslava Balaščaková, Veronika Biddle, Romana Borská, Lenka Fajkusová, Lukáš Ryba, Anna Křepelová   +8 more
wiley   +1 more source

A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome

, 2006
Background: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be
Hehr, U
core   +1 more source

Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch‐Steindl Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel de novo NSD2 variant (c.2137G>C, p.Gly713Arg) was identified in a Chinese patient presenting with a syndromic developmental disorder. RNA analysis from patient‐derived material revealed that this missense variant induces aberrant splicing of NSD2 transcripts, resulting in a frameshift and likely a loss‐of‐function protein product.
Shixuan Xu, Guoqiang Li, Yimin He, Yiyao Chen, Lu‐lu Li, Niu Li, Shuyuan Li, Jian Wang   +7 more
wiley   +1 more source

Genetic Analysis of Pitt–Hopkins Syndrome Caused by a Novel Splicing Variant (c.1146+3A>T) in the TCF4 Gene

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
A novel pathogenic splicing variant (TCF4c.1146+3A>T) was identified in a fetus with increased nuchal translucency. The variant disrupts normal splicing, causing exon 14 skipping and protein truncation, which is consistent with Pitt–Hopkins Syndrome.
Wenlong Shen, Yan Zhang, Junjie Wu, Jue Zhao, Yaer Lv, Xiaohua Tang   +5 more
wiley   +1 more source

Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven

European Journal of Translational Myology
Dear Editor,   We were interested to read the article by Maccarone et al. about a 15-year-old girl with scoliosis, growth retardation, facial dysmorphism and delayed puberty.1 Genetic testing revealed the heterozygous variant NM_002470.4(MYH3):c.326G>A
Josef Finsterer
doaj   +1 more source

A 797 kb de novo deletion of 18q21.31 in a patient with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies

, 2010
We report a 797 kb de novo interstitial deletion of 18q21.31 in a 6-year-old boy with speech delay, mental retardation, sleeping problems, facial dysmorphism, and feet anomalies.
Oudesluys-Murphy, A.M., Ruivenkamp, C.A.L., Bijlsma, E.K., Diepen, M.M.L. van, Gijsbers, A.C.J., Bosch, C.A.J.   +5 more
core   +1 more source

A Rare Clinical Presentation of Variegate Porphyria

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, Volume 109, Issue 6, Page 1064-1069, June 2026.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Jacobsen syndrome without thrombocytopenia: a case report and review of the literature

The Turkish Journal of Pediatrics, 2013
Jacobsen syndrome (JS), a rare disorder with multiple dysmorphic features, is caused by the terminal deletion of chromosome 11q. Typical features include mild to moderate psychomotor retardation, trigonocephaly, facial dysmorphism, cardiac defects,
Burçin Nalbantoğlu, M Metin Donma, Kemal Nişli, Cem Paketçi, Erkut Karasu, Burcu Ozdilek, Nuriye Ece Mintaş   +6 more
doaj  

Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia

Diagnostics
Background: Monosomy 18p is a chromosomal disorder resulting from the deletion of the short arm of chromosome 18. While a lot of cases result from the partial deletion of 18p, only a few reported cases are caused by the deletion of the whole short arm of
Bojana Marković, Marina Gazdić Janković, Zoran Igrutinović, Raša Medović, Nevena Stojadinović, Biljana Ljujić   +5 more
doaj   +1 more source