Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene
Xia-Gibbs syndrome is caused by pathogenic variants in the AHDC1 gene. The characteristic features of the syndrome include delayed psychomotor and speech development, short stature, hypotonia, intellectual disability, structural brain anomalies, and mild facial dysmorphia. A boy came to the Genetic...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2025-03-01
|
| Series: | Pediatria Polska |
| Subjects: | |
| Online Access: | https://www.termedia.pl/Diagnostic-and-clinical-approach-to-a-paediatric-patient-with-skin-aplasia-of-the-head-as-a-rare-manifestation-of-Xia-Gibbs-syndrome-caused-by-a-new-potentially-pathogenic-de-novo-mutation-in-the-AHDC,127,55842,1,1.html |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850155166389501952 |
|---|---|
| author | Gabriela Ręka Mateusz Górecki Katarzyna Wojciechowska Monika Lejman |
| author_facet | Gabriela Ręka Mateusz Górecki Katarzyna Wojciechowska Monika Lejman |
| author_sort | Gabriela Ręka |
| collection | DOAJ |
| description | Xia-Gibbs syndrome is caused by pathogenic variants in the AHDC1 gene. The characteristic features of the syndrome include delayed psychomotor and speech development, short stature, hypotonia, intellectual disability, structural brain anomalies, and mild facial dysmorphia. A boy came to the Genetic Outpatient Clinic due to skin aplasia of the head, facial dysmorphic changes, syndactyly of the second and third toes, delayed motor development, squamous haemangiomas on the head and face, hypoplasia of tooth enamel, excessively developed subcutaneous tissue, hypotonia, and joint laxity. In next-generation whole-exome sequencing a potentially pathogenic variant c.1913G>A, p.Trp638Ter was detected in a single allele of the AHDC1, resulting in premature termination of the protein. The boy’s parents were not carriers of the lesion. Aplasia of the head’s skin is an extremely rare discovery in the phenotype of patients with Xia-Gibbs syndrome. Next-generation sequencing allowed for an accurate diagnosis and detection of a mutation in the AHDC1 gene. |
| format | Article |
| id | doaj-art-2d22de65d8274c008b0d8a2286ea183a |
| institution | OA Journals |
| issn | 0031-3939 2300-8660 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | Termedia Publishing House |
| record_format | Article |
| series | Pediatria Polska |
| spelling | doaj-art-2d22de65d8274c008b0d8a2286ea183a2025-08-20T02:25:01ZengTermedia Publishing HousePediatria Polska0031-39392300-86602025-03-011001869110.5114/polp.2025.14905255842Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 geneGabriela RękaMateusz GóreckiKatarzyna WojciechowskaMonika LejmanXia-Gibbs syndrome is caused by pathogenic variants in the AHDC1 gene. The characteristic features of the syndrome include delayed psychomotor and speech development, short stature, hypotonia, intellectual disability, structural brain anomalies, and mild facial dysmorphia. A boy came to the Genetic Outpatient Clinic due to skin aplasia of the head, facial dysmorphic changes, syndactyly of the second and third toes, delayed motor development, squamous haemangiomas on the head and face, hypoplasia of tooth enamel, excessively developed subcutaneous tissue, hypotonia, and joint laxity. In next-generation whole-exome sequencing a potentially pathogenic variant c.1913G>A, p.Trp638Ter was detected in a single allele of the AHDC1, resulting in premature termination of the protein. The boy’s parents were not carriers of the lesion. Aplasia of the head’s skin is an extremely rare discovery in the phenotype of patients with Xia-Gibbs syndrome. Next-generation sequencing allowed for an accurate diagnosis and detection of a mutation in the AHDC1 gene.https://www.termedia.pl/Diagnostic-and-clinical-approach-to-a-paediatric-patient-with-skin-aplasia-of-the-head-as-a-rare-manifestation-of-Xia-Gibbs-syndrome-caused-by-a-new-potentially-pathogenic-de-novo-mutation-in-the-AHDC,127,55842,1,1.htmlwhole-exome sequencing xia-gibbs syndrome ahdc1 gene. |
| spellingShingle | Gabriela Ręka Mateusz Górecki Katarzyna Wojciechowska Monika Lejman Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene Pediatria Polska whole-exome sequencing xia-gibbs syndrome ahdc1 gene. |
| title | Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene |
| title_full | Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene |
| title_fullStr | Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene |
| title_full_unstemmed | Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene |
| title_short | Diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of Xia-Gibbs syndrome caused by a new, potentially pathogenic de novo mutation in the AHDC1 gene |
| title_sort | diagnostic and clinical approach to a paediatric patient with skin aplasia of the head as a rare manifestation of xia gibbs syndrome caused by a new potentially pathogenic de novo mutation in the ahdc1 gene |
| topic | whole-exome sequencing xia-gibbs syndrome ahdc1 gene. |
| url | https://www.termedia.pl/Diagnostic-and-clinical-approach-to-a-paediatric-patient-with-skin-aplasia-of-the-head-as-a-rare-manifestation-of-Xia-Gibbs-syndrome-caused-by-a-new-potentially-pathogenic-de-novo-mutation-in-the-AHDC,127,55842,1,1.html |
| work_keys_str_mv | AT gabrielareka diagnosticandclinicalapproachtoapaediatricpatientwithskinaplasiaoftheheadasararemanifestationofxiagibbssyndromecausedbyanewpotentiallypathogenicdenovomutationintheahdc1gene AT mateuszgorecki diagnosticandclinicalapproachtoapaediatricpatientwithskinaplasiaoftheheadasararemanifestationofxiagibbssyndromecausedbyanewpotentiallypathogenicdenovomutationintheahdc1gene AT katarzynawojciechowska diagnosticandclinicalapproachtoapaediatricpatientwithskinaplasiaoftheheadasararemanifestationofxiagibbssyndromecausedbyanewpotentiallypathogenicdenovomutationintheahdc1gene AT monikalejman diagnosticandclinicalapproachtoapaediatricpatientwithskinaplasiaoftheheadasararemanifestationofxiagibbssyndromecausedbyanewpotentiallypathogenicdenovomutationintheahdc1gene |