Unknown

Dataset Information

0

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

ABSTRACT: Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p.Gly218Ser variation in TGM1; a variation reported earlier in an isolated Finnish population in association with autosomal recessive non-syndromic ichthyosis. This concurrence of a potentially benign 22q12+ duplication and LI, both rare individually, is reported here likely for the first time.

SUBMITTER: Gupta A 

PROVIDER: S-EPMC4648218 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Case Report: Whole exome sequencing helps in accurate molecular diagnosis in siblings with a rare co-occurrence of paternally inherited 22q12 duplication and autosomal recessive non-syndromic ichthyosis.

Gupta Aayush A   Sharma Yugal Y   Deo Kirti K   Vellarikkal Shamsudheen S   Jayarajan Rijith R   Dixit Vishal V   Verma Ankit A   Scaria Vinod V   Sivasubbu Sridhar S  

F1000Research 20150731

Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing  ...[more]

Similar Datasets

Unknown Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis.
| S-EPMC8910354 | biostudies-literature
Unknown Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
| S-EPMC1377076 | biostudies-other
Unknown PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis.
| S-EPMC9332298 | biostudies-literature
Unknown Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
| S-EPMC3675029 | biostudies-literature
Unknown Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
| S-EPMC5473727 | biostudies-literature
Unknown Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes.
| S-EPMC5643971 | biostudies-literature
Unknown Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.
| S-EPMC9263410 | biostudies-literature
Transcriptomics Tofacitinib reduces skin inflammation in a patient with severe autosomal recessive congenital ichthyosis
2023-04-03 | GSE228449 | GEO
Unknown Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.
| S-EPMC3839340 | biostudies-other
Unknown Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency.
| S-EPMC4492690 | biostudies-literature