ABSTRACT
OBJECTIVE@#To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).@*METHODS@#A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.@*RESULTS@#WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother.@*CONCLUSION@#The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.
Subject(s)
Female , Humans , Male , Child , Dwarfism/genetics , Exome Sequencing , Intellectual Disability/genetics , Microcephaly , Mothers , MutationABSTRACT
The clinical data of 4 patients in a pedigree of charcot-marie-tooth disease type 2cc (CMT2cc) caused by the NEFH gene mutation from the Department of Rehabilitation, Tianjin Children′s Hospital in March 2020 were reviewed and analyzed retrospectively.The purpose of this study was to improve clinicians′ awareness of the di-sease.The pedigree had signs and symptoms of varying degrees of pyramidal fasciculus involvement, high arched feet, and achilles tendon contracture.The electrophysiological testing of both lower extremities suggested sensory and motor nerve axonal damage, and an abnormal visual evoked potential was observed.Second-generation sequencing revealed that the pathogenic factor was the NEFH gene variation: c.1319G>A (p.Ser440Asn), which is a new mutation site that has never been reported before. NEFH mutations can cause a complex clinical phenotype of CMT2cc, which is therefore easily misdiagnosed.Central and peripheral nerves are simultaneously involved in CMT2cc patients.Electrophysiological testing and genetic analysis are required to clarify the diagnosis of CMT2cc.
ABSTRACT
The clinical data of 4 patients in a pedigree of charcot-marie-tooth disease type 2cc (CMT2cc) caused by the NEFH gene mutation from the Department of Rehabilitation, Tianjin Children′s Hospital in March 2020 were reviewed and analyzed retrospectively.The purpose of this study was to improve clinicians′ awareness of the di-sease.The pedigree had signs and symptoms of varying degrees of pyramidal fasciculus involvement, high arched feet, and achilles tendon contracture.The electrophysiological testing of both lower extremities suggested sensory and motor nerve axonal damage, and an abnormal visual evoked potential was observed.Second-generation sequencing revealed that the pathogenic factor was the NEFH gene variation: c.1319G>A (p.Ser440Asn), which is a new mutation site that has never been reported before. NEFH mutations can cause a complex clinical phenotype of CMT2cc, which is therefore easily misdiagnosed.Central and peripheral nerves are simultaneously involved in CMT2cc patients.Electrophysiological testing and genetic analysis are required to clarify the diagnosis of CMT2cc.