Phenotypic Evolution in a Boy with MYL11-Related Distal Arthrogryposis Type 1C: A Case Report.

Abstract

Introduction

Distal arthrogryposis (DA) type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. It is caused by biallelic variants in MYL11(MYLPF), which encodes a regulatory myosin light chain in fast-twitch skeletal muscle.Case presentation

We evaluated a 3-year-old boy from a consanguineous family presenting with features of distal arthrogryposis. Clinical, radiographic, and electrophysiological assessments were performed. He had distal joint contractures, camptodactyly, cutaneous syndactyly of the second and third toes, absent distal interphalangeal creases, left-sided inguinal hernia, facial dysmorphism, and short stature. Exome sequencing failed to detect any candidate variants. On re-analysis after 7 years, we identified a homozygous NC_000016.10:g.30377860G>T; MYL11(NM_013292.5):c.470G>T; p.(Cys157Phe) variant, which causes DA1C. This variant was reported by Chong et al. in 2020 in seven patients with MYL11-related disorders and was classified as pathogenic.Conclusions

This study extends the spectrum of MYL11-related disorders by identifying a phenotype of distal arthrogryposis with marked facial dysmorphism reminiscent of DA2, along with other findings like absent distal interphalangeal joint creases, hirsutism, inguinal hernia, and syndactyly of the 2nd and 3rd toes. This report also highlights the critical role of periodic re-analysis of previously uninformative exome cases.

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Cite

BibTeX RIS

BibTeX

@article{maurya2026phenotypic,
  title = {{Phenotypic Evolution in a Boy with MYL11-Related Distal Arthrogryposis Type 1C: A Case Report.}},
  author = {Rajesh K Maurya and Niladri Das and Shubha R Phadke and Amita Moirangthem},
  journal = {Molecular syndromology},
  year = {2026},
  month = sep,
  doi = {10.1159/msy/adrag013},
  url = {https://europepmc.org/article/MED/42924046},
  note = {CC BY-NC},
}

RIS

TY  - JOUR
TI  - Phenotypic Evolution in a Boy with MYL11-Related Distal Arthrogryposis Type 1C: A Case Report.
AU  - Rajesh K Maurya
AU  - Niladri Das
AU  - Shubha R Phadke
AU  - Amita Moirangthem
PY  - 2026
DA  - 2026/09/12
JO  - Molecular syndromology
DO  - 10.1159/msy/adrag013
UR  - https://europepmc.org/article/MED/42924046
AB  - Introduction  Distal arthrogryposis (DA) type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. It is caused by biallelic variants in MYL11(MYLPF), which encodes a regulatory myosin light chain in fast-twitch skeletal muscle.Case presentation  We evaluated a 3-year-old boy from a consanguineous family presenting with features of distal arthrogryposis. Clinical, radiographic, and electrophysiological assessments were performed. He had distal joint contractures, camptodactyly, cutaneous syndactyly of the second and third toes, absent distal interphalangeal creases, left-sided inguinal hernia, facial dysmorphism, and short stature. Exome sequencing failed to detect any candidate variants. On re-analysis after 7 years, we identified a homozygous NC_000016.10:g.30377860G>T; MYL11(NM_013292.5):c.470G>T; p.(Cys157Phe) variant, which causes DA1C. This variant was reported by Chong et al. in 2020 in seven patients with MYL11-related disorders and was classified as pathogenic.Conclusions  This study extends the spectrum of MYL11-related disorders by identifying a phenotype of distal arthrogryposis with marked facial dysmorphism reminiscent of DA2, along with other findings like absent distal interphalangeal joint creases, hirsutism, inguinal hernia, and syndactyly of the 2nd and 3rd toes. This report also highlights the critical role of periodic re-analysis of previously uninformative exome cases.
SN  - 1661-8769
SN  - 1661-8777
ER  -