STX16 exon 5-7 deletion in a patient with pseudohypoparathyroidism type 1B.
J Pediatr Endocrinol Metab
; 37(8): 734-740, 2024 Aug 27.
Article
in En
| MEDLINE
| ID: mdl-39026465
ABSTRACT
OBJECTIVES:
Pseudohypoparathyroidism (PHP) comprises a cluster of heterogeneous diseases characterized by hypocalcemia and hyperphosphatemia due to parathyroid hormone (PTH) resistance. PHP type 1B (PHP1B) is caused by heterozygous maternal deletions within GNAS or STX16. STX16 exon 2-6 deletion is commonly observed in autosomal dominant (AD)-PHP1B, while sporadic PHP1B commonly results from methylation abnormalities of maternal differentially methylated regions and remains unclear at the molecular level. CASE PRESENTATION A 39-year-old male patient with PHP1B, who had his first seizure at 15 years of age, presented to our hospital. The methylation-specific multiplex ligation-dependent probe amplification results showed a half-reduced copy number of STX16 exon 5-7 and loss of methylation at GNAS exon A/B. His mother also had a half-reduced copy number of STX16 exon 5-7 but with normal methylation of GNAS. His father has a normal copy number of STX16 and normal methylation of GNAS.CONCLUSIONS:
For the recognition and early diagnosis of this kind of disease, here we report the clinical symptoms, auxiliary examinations, genetic testing characteristics, and treatment of the patient.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pseudohypoparathyroidism
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Exons
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Syntaxin 16
Limits:
Adult
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Humans
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Male
Language:
En
Journal:
J Pediatr Endocrinol Metab
Journal subject:
ENDOCRINOLOGIA
/
PEDIATRIA
Year:
2024
Document type:
Article
Affiliation country: