Journal of pediatric endocrinology & metabolism : JPEM · 2026
Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Sezer Abdullah, Yalçın Fatma Zehra, Kolkıran Abdulkerim, Çetinkaya Semra
Аннотация
OBJECTIVES: Meier-Gorlin syndrome (MGORS) is a rare primordial dwarfism characterized by microtia, patellar hypoplasia/aplasia, and short stature. Additional features may include skeletal, respiratory, urogenital, and endocrine abnormalities. 13 genes have been implicated, with DONSON, essential for replication fork stability and intra-S phase checkpoint activation, being the most recently identified. Only six patients with DONSON-related MGORS have been reported. This study expands the phenotype by presenting long-term follow-up and prenatal data in two affected siblings.
CASE PRESENTATION: The index patient, a 10-year-old male, had short stature, microcephaly, microtia, craniofacial features, hearing loss, patellar aplasia, and genitourinary anomalies. Despite an early growth delay, his height progressively improved without intervention. Whole-exome sequencing revealed a homozygous pathogenic c.631C>T p.(Arg211Cys) variant in DONSON (NM_017613.3). Following genetic counseling, the family declined prenatal testing in a subsequent pregnancy complicated by intrauterine growth restriction. The newborn female sibling carried the same variant and displayed DONSON-related MGORS features, including the first reported case of thumb aplasia. Additional findings in the family included renal hypoplasia, 2-4 toe syndactyly, and hypospadias.
CONCLUSIONS: This is the third report of DONSON c.631C>T p.(Arg211Cys) in Turkish patients. While the recurrence in the same population suggests a founder effect, haplotype-based analysis is required. Thumb aplasia expands the known phenotype of DONSON-related MGORS, and the observed moderate course of growth retardation offers prognostic value. These findings highlight the importance of including DONSON in MGORS gene panels, considering population-specific variants, and systematically documenting rare phenotypic features to improve diagnosis, follow-up, and genetic counseling.
CASE PRESENTATION: The index patient, a 10-year-old male, had short stature, microcephaly, microtia, craniofacial features, hearing loss, patellar aplasia, and genitourinary anomalies. Despite an early growth delay, his height progressively improved without intervention. Whole-exome sequencing revealed a homozygous pathogenic c.631C>T p.(Arg211Cys) variant in DONSON (NM_017613.3). Following genetic counseling, the family declined prenatal testing in a subsequent pregnancy complicated by intrauterine growth restriction. The newborn female sibling carried the same variant and displayed DONSON-related MGORS features, including the first reported case of thumb aplasia. Additional findings in the family included renal hypoplasia, 2-4 toe syndactyly, and hypospadias.
CONCLUSIONS: This is the third report of DONSON c.631C>T p.(Arg211Cys) in Turkish patients. While the recurrence in the same population suggests a founder effect, haplotype-based analysis is required. Thumb aplasia expands the known phenotype of DONSON-related MGORS, and the observed moderate course of growth retardation offers prognostic value. These findings highlight the importance of including DONSON in MGORS gene panels, considering population-specific variants, and systematically documenting rare phenotypic features to improve diagnosis, follow-up, and genetic counseling.