A Novel MYO5A Mutation (c.3508C>T) in a 27‐Month‐Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1
Davoud AmirKashani, Soudabeh Hosseini, Marziyeh Mojbafan, Niusha Sharifinejad, Sima Bahrami · 2026
Read A Novel MYO5A Mutation (c.3508C>T) in a 27‐Month‐Old Girl With Hypotonia and Developmental Delay: Expanding the Phenotypic Spectrum of Griscelli Syndrome Type 1 by Davoud AmirKashani, Soudabeh Hosseini, Marziyeh Mojbafan, Niusha Sharifinejad, Sima Bahrami (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13311309.txt.
Description
Davoud AmirKashani and colleagues report a 2026 case of Griscelli syndrome type 1 in a toddler with a gene change never seen before. The rare inherited disorder usually lightens hair and skin color.
The patient was a 27-month-old girl from Afghanistan whose parents are related. She showed slow development and weak muscles without the classic silvery hair. Full gene sequencing found a new homozygous change in the MYO5A gene, confirming type 1 disease. A hair check under the microscope still showed the odd pigment pattern. The case widens the known range of this condition and backs gene testing when signs are atypical.
Catalog record
| CREATOR | Davoud AmirKashani, Soudabeh Hosseini, Marziyeh Mojbafan, Niusha Sharifinejad, Sima Bahrami |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11142 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |