CHAMP1-Related Disorder : Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature
Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. While the causes of ID are still largely unknown, it is believed to result from a combination of environmental exposures and genetic abnormalities. Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is CHAMP1, which plays a role in chromosome alignment and has been linked to a specific type of NDD called CHAMP1 disease. This report presents the case of a 21-year-old Lebanese female patient with a de novo mutation in CHAMP1. In addition to ID and NDD, the patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome. These findings expand the understanding of the clinical spectrum associated with CHAMP1 mutations and highlight the importance of comprehensive follow-up for improved prognosis. Overall, this case contributes to the knowledge of CHAMP1-related NDDs by describing additional clinical features associated with a CHAMP1 mutation. The findings underscore the need for accurate diagnosis, thorough follow-up, and personalized care for individuals with CHAMP1 mutations to optimize their prognosis.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2023 |
|---|---|
| Erschienen: |
2023 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:14 |
|---|---|
| Enthalten in: |
Genes - 14(2023), 8 vom: 28. Juli |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Abi Raad, Sarah [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
CHAMP1 |
|---|
| Anmerkungen: |
Date Completed 28.08.2023 Date Revised 29.08.2023 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.3390/genes14081546 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM361267800 |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM361267800 | ||
| 003 | DE-627 | ||
| 005 | 20231226210818.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231226s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.3390/genes14081546 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1204.xml |
| 035 | |a (DE-627)NLM361267800 | ||
| 035 | |a (NLM)37628598 | ||
| 035 | |a (PII)1546 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Abi Raad, Sarah |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a CHAMP1-Related Disorder |b Sharing 20 Years of thorough Clinical Follow-Up and Review of the Literature |
| 264 | 1 | |c 2023 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 28.08.2023 | ||
| 500 | |a Date Revised 29.08.2023 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by limitations in intellectual functioning and adaptive behavior. While the causes of ID are still largely unknown, it is believed to result from a combination of environmental exposures and genetic abnormalities. Recent advancements in genomic studies and clinical genetic testing have identified numerous genes associated with neurodevelopmental disorders (NDDs), including ID. One such gene is CHAMP1, which plays a role in chromosome alignment and has been linked to a specific type of NDD called CHAMP1 disease. This report presents the case of a 21-year-old Lebanese female patient with a de novo mutation in CHAMP1. In addition to ID and NDD, the patient exhibited various clinical features such as impaired language, dysmorphic features, macrocephaly, thoracic hyperkyphosis, decreased pain sensation, and metabolic syndrome. These findings expand the understanding of the clinical spectrum associated with CHAMP1 mutations and highlight the importance of comprehensive follow-up for improved prognosis. Overall, this case contributes to the knowledge of CHAMP1-related NDDs by describing additional clinical features associated with a CHAMP1 mutation. The findings underscore the need for accurate diagnosis, thorough follow-up, and personalized care for individuals with CHAMP1 mutations to optimize their prognosis | ||
| 650 | 4 | |a Review | |
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a CHAMP1 | |
| 650 | 4 | |a MRD40 | |
| 650 | 4 | |a intellectual disability | |
| 650 | 4 | |a metabolic syndrome | |
| 650 | 4 | |a neurodevelopmental delay | |
| 650 | 7 | |a CHAMP1 protein, human |2 NLM | |
| 650 | 7 | |a Chromosomal Proteins, Non-Histone |2 NLM | |
| 650 | 7 | |a Phosphoproteins |2 NLM | |
| 700 | 1 | |a Yazbeck Karam, Vanda |e verfasserin |4 aut | |
| 700 | 1 | |a Chouery, Eliane |e verfasserin |4 aut | |
| 700 | 1 | |a Mehawej, Cybel |e verfasserin |4 aut | |
| 700 | 1 | |a Megarbane, Andre |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genes |d 2011 |g 14(2023), 8 vom: 28. Juli |w (DE-627)NLM220446326 |x 2073-4425 |7 nnns |
| 773 | 1 | 8 | |g volume:14 |g year:2023 |g number:8 |g day:28 |g month:07 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.3390/genes14081546 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 14 |j 2023 |e 8 |b 28 |c 07 | ||