Table 2 ALMS1 gene pathogenic variants identified in patients with Alström Syndrome
From: New pathogenic variants of ALMS1 gene in two Chinese families with Alström Syndrome
Family | Patient | Exon | Genotype | cDNA change | Protein change | variation source |
|---|---|---|---|---|---|---|
Family1 | II:1 | Exon8 | compound heterozygous | NM_015120.4:c.6754G > Ta | NP_055935.4:p.(Asp2252Tyr) | mother |
Exon17 | NM_015120.4:c.11641_11642dela | NP_055935.4:p.(Val3881ThrfsTer11) | father | |||
Family2 | II:1 | Exon15 | compound heterozygous | NM_015120.4:c.10379dela | NP_055935.4:p.(Asn3460IlefsTer49) | father |
Exon16 | NM_015120.4:c.10819C > Ta | NP_055935.4:p.(Arg3607Trp) | mother | |||
II:2 | Exon15 | compound heterozygous | NM_015120.4:c.10379dela | NP_055935.4:p.(Asn3460IlefsTer49) | father | |
Exon16 | NM_015120.4:c.10819C > Ta | NP_055935.4:p.(Arg3607Trp) | mother |