Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene
Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyltransferase (GNPAT) gene mutations and is inherited...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-06-01
|
| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.7504 |
| _version_ | 1797791745476395008 |
|---|---|
| author | Jamal Sayed Ahmed Gamal Abdulrahman Theyab Mohamed Algahtani Banan Bakheet Aldaadi |
| author_facet | Jamal Sayed Ahmed Gamal Abdulrahman Theyab Mohamed Algahtani Banan Bakheet Aldaadi |
| author_sort | Jamal Sayed |
| collection | DOAJ |
| description | Key Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyltransferase (GNPAT) gene mutations and is inherited as an autosomal recessive trait. The disorder is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory distress. The case report describes a newborn baby with a dysmorphic facial appearance and skeletal abnormalities who was admitted to neonatal intensive care with respiratory distress. His parents were first cousins. The whole exome sequencing for this patient identified an interesting homozygous variant in the GNPAT gene [GNPAT (NM_014236.4):c.1602+1G>A (p.?), Chr1 (GRCh37):g.231408138G>A]. This case report aims to highlight the patient's clinical presentation with the variant and the whole exome sequencing, indicating the identification of a novel mutation in the GNPAT gene causing RCDP type 2. |
| first_indexed | 2024-03-13T02:23:06Z |
| format | Article |
| id | doaj.art-7a4274dc35104ec3acd78d8988861fb3 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-03-13T02:23:06Z |
| publishDate | 2023-06-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-7a4274dc35104ec3acd78d8988861fb32023-06-30T07:34:07ZengWileyClinical Case Reports2050-09042023-06-01116n/an/a10.1002/ccr3.7504Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT geneJamal Sayed0Ahmed Gamal1Abdulrahman Theyab2Mohamed Algahtani3Banan Bakheet Aldaadi4Security Forces Hospital Makkah (SFHM) Makah Saudi ArabiaCollege of Medicine Al‐Faisal University Riyadh Saudi ArabiaCollege of Medicine Al‐Faisal University Riyadh Saudi ArabiaDepartment of Laboratory and Blood Bank Security Forces Hospital Makkah Makah Saudi ArabiaDepartment of Radiology Security Forces Hospital Makkah Makah Saudi ArabiaKey Clinical Message Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder (~1 in 100,000 live births) of faulty plasmalogen biosynthesis and defective peroxisomal metabolism. RCDP type 2 is specifically caused by glyceronephosphate O‐acyltransferase (GNPAT) gene mutations and is inherited as an autosomal recessive trait. The disorder is characterized by skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory distress. The case report describes a newborn baby with a dysmorphic facial appearance and skeletal abnormalities who was admitted to neonatal intensive care with respiratory distress. His parents were first cousins. The whole exome sequencing for this patient identified an interesting homozygous variant in the GNPAT gene [GNPAT (NM_014236.4):c.1602+1G>A (p.?), Chr1 (GRCh37):g.231408138G>A]. This case report aims to highlight the patient's clinical presentation with the variant and the whole exome sequencing, indicating the identification of a novel mutation in the GNPAT gene causing RCDP type 2.https://doi.org/10.1002/ccr3.7504genetic testingGNPAT genemutationneonatal RCDPRCDP |
| spellingShingle | Jamal Sayed Ahmed Gamal Abdulrahman Theyab Mohamed Algahtani Banan Bakheet Aldaadi Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene Clinical Case Reports genetic testing GNPAT gene mutation neonatal RCDP RCDP |
| title | Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene |
| title_full | Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene |
| title_fullStr | Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene |
| title_full_unstemmed | Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene |
| title_short | Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene |
| title_sort | neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the gnpat gene |
| topic | genetic testing GNPAT gene mutation neonatal RCDP RCDP |
| url | https://doi.org/10.1002/ccr3.7504 |
| work_keys_str_mv | AT jamalsayed neonatalrhizomelicchondrodysplasiapunctatatype2causedbyanovelhomozygousvariantinthegnpatgene AT ahmedgamal neonatalrhizomelicchondrodysplasiapunctatatype2causedbyanovelhomozygousvariantinthegnpatgene AT abdulrahmantheyab neonatalrhizomelicchondrodysplasiapunctatatype2causedbyanovelhomozygousvariantinthegnpatgene AT mohamedalgahtani neonatalrhizomelicchondrodysplasiapunctatatype2causedbyanovelhomozygousvariantinthegnpatgene AT bananbakheetaldaadi neonatalrhizomelicchondrodysplasiapunctatatype2causedbyanovelhomozygousvariantinthegnpatgene |