title: 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.
authors.affiliation: Department of Dermatology, Dr. D.Y. Patil Medical College, Pune, India.
authors.forename: Aayush
authors.initials: A
authors.lastname: Gupta
authors.affiliation: Department of Dermatology, Dr. D.Y. Patil Medical College, Pune, India.
authors.forename: Yugal
authors.initials: Y
authors.lastname: Sharma
authors.affiliation: Department of Dermatology, Dr. D.Y. Patil Medical College, Pune, India.
authors.forename: Kirti
authors.initials: K
authors.lastname: Deo
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India ; Academy of Scientific and Innovative Research, Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Shamsudheen
authors.initials: S
authors.lastname: Vellarikkal
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Rijith
authors.initials: R
authors.lastname: Jayarajan
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Vishal
authors.initials: V
authors.lastname: Dixit
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Ankit
authors.initials: A
authors.lastname: Verma
authors.affiliation: GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India ; Academy of Scientific and Innovative Research, Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Vinod
authors.initials: V
authors.lastname: Scaria
authors.affiliation: Genomics and Molecular Medicine, CSIR Institute of Genomics and Integrative Biology, Delhi, India ; Academy of Scientific and Innovative Research, Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology, Delhi, India.
authors.forename: Sridhar
authors.initials: S
authors.lastname: Sivasubbu
keywords: Lamellar ichthyosis; TGM1; Whole Exome Sequencing; chr22q12; genodermatosis