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Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

ABSTRACT: Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice variant (NM_014462.3:c.231+4A>C) in LSM1 that segregated with the phenotype in the family. LSM1 has a role in pre-mRNA splicing and degradation. Expression studies revealed absence of expression of the canonical isoform in the affected individuals. The Lsm1 knockout mice have a partially overlapping phenotype that affects the brain, heart, and eye. To our knowledge, LSM1 has not been associated with any human disorder; however, the tissue expression pattern, gene constraint, and the similarity of the phenotype in our patients and the knockout mice models suggest it has a role in the development of multiple organ systems in humans.

SUBMITTER: Okur V 

PROVIDER: S-EPMC6549555 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Homozygous noncanonical splice variant in <i>LSM1</i> in two siblings with multiple congenital anomalies and global developmental delay.

Okur Volkan V   LeDuc Charles A CA   Guzman Edwin E   Valivullah Zaheer M ZM   Anyane-Yeboa Kwame K   Chung Wendy K WK  

Cold Spring Harbor molecular case studies 20190603 3

Two siblings, one male and one female, ages 6 and 13 yr old, have similar clinical features of global developmental delay, multiple congenital anomalies affecting the cardiac, genitourinary, and skeletal systems, and abnormal eye movements. Whole-genome sequencing revealed a homozygous splice variant (NM_014462.3:c.231+4A>C) in <i>LSM1</i> that segregated with the phenotype in the family. LSM1 has a role in pre-mRNA splicing and degradation. Expression studies revealed absence of expression of t  ...[more]

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