User:Jinkli/ARL6IP6

==== Clinical Significance ====

==== Clinical Significance ====

ARL6IP6 mutations have been linked to both neurological and vascular malfunctions. A 2015 study reported a patient with a loss-of-function mutation who presented with cutis marmorata telangiectatic congenita (CMTC), which resulted in vascular abnormalities, developmental delays and transient ischemic attacks (strokes). {{Cite web |last=MetaPress |title=SpringerLink - Human Genetics |url=http://www.springerlink.com/content/100421/ |archive-url=http://web.archive.org/web/20111016121225/http://www.springerlink.com/content/100421/ |archive-date=2011-10-16 |access-date=2026-04-20 |website=www.springerlink.com |language=en-US}} Literature reviews have reported mutations in additional patients with CMTC and strokes but the functional consequences of these mutations remain unknown.{{Cite journal |last=Bui |first=Teresa Nu Phuong Trinh |last2=Corap |first2=Ayse |last3=Bygum |first3=Anette |date=2019-12-04 |title=Cutis marmorata telangiectatica congenita: a literature review |url=https://doi.org/10.1186/s13023-019-1229-8 |journal=Orphanet Journal of Rare Diseases |language=en |volume=14 |issue=1 |pages=283 |doi=10.1186/s13023-019-1229-8 |issn=1750-1172 |pmc=6894123 |pmid=31801575}}

ARL6IP6 mutations have been linked to both neurological and vascular malfunctions. A 2015 study reported a patient with a loss-of-function mutation who presented with cutis marmorata telangiectatic congenita (CMTC), which resulted in vascular abnormalities, developmental delays and transient ischemic attacks (strokes). {{Cite web |last=MetaPress |title=SpringerLink - Human Genetics |url=http://www.springerlink.com/content/100421/ |archive-url=http://web.archive.org/web/20111016121225/http://www.springerlink.com/content/100421/ |archive-date=2011-10-16 |access-date=2026-04-20 |website=www.springerlink.com |language=en-US}} Literature reviews have reported mutations in additional patients with CMTC and strokes but the functional consequences of these mutations remain unknown.{{Cite journal |last=Bui |first=Teresa Nu Phuong Trinh |last2=Corap |first2=Ayse |last3=Bygum |first3=Anette |date=2019-12-04 |title=Cutis marmorata telangiectatica congenita: a literature review |url=https://doi.org/10.1186/s13023-019-1229-8 |journal=Orphanet Journal of Rare Diseases |language=en |volume=14 |issue=1 |pages=283 |doi=10.1186/s13023-019-1229-8 |issn=1750-1172 |pmc=6894123 |pmid=31801575}} Additionally, a genome-wide study identified a single nucleotide polymorphism (SNP), rs1986743, located in an intron of ARL6IP6 that displayed suggestive association (P = 2.7 × 10⁻⁷) with early onset ischemic stroke, but did not reach genome-wide significance.{{Cite journal |last=Cheng |first=Yu-Ching |last2=O’Connell |first2=Jeffrey R |last3=Cole |first3=John W |last4=Stine |first4=O Colin |last5=Dueker |first5=Nicole |last6=McArdle |first6=Patrick F |last7=Sparks |first7=Mary J |last8=Shen |first8=Jess |last9=Laurie |first9=Cathy C |last10=Nelson |first10=Sarah |last11=Doheny |first11=Kimberly F |last12=Ling |first12=Hua |last13=Pugh |first13=Elizabeth W |last14=Brott |first14=Thomas G |last15=Brown |first15=Robert D |date=2011-11-01 |title=Genome-Wide Association Analysis of Ischemic Stroke in Young Adults |url=https://academic.oup.com/g3journal/article/1/6/505/5986491 |journal=G3 Genes{{!}}Genomes{{!}}Genetics |language=en |volume=1 |issue=6 |pages=505–514 |doi=10.1534/g3.111.001164 |issn=2160-1836 |pmc=3276159 |pmid=22384361}}

=== References ===

=== References ===