Table.

Genetic Disorders Associated with Founder Variants Common in the Navajo Population

GeneDisorderMOIDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeProportion of Pathogenic Variants in Gene 2Carrier FrequencyEthnicity (Specific Region)Reference SequencesReferences
ARSA Arylsulfatase A deficiency ARc.854+1G>A--~100% 31/25 to 1/50Navajo (Western Navajo Nation) NM_000487​.6 Pastor-Soler et al [1994], Holve et al [2001]
DCLRE1C Severe combined immunodeficiency (SCID-A)
(OMIM 602450)		ARc.597C>Ap.Tyr199Ter~100% 3~1/20 to 1/25Navajo NM_001033855​.3
NP_001029027​.1 		Kwan et al [2015]
HOXA1 Navajo brain stem syndrome
(OMIM 601536)		ARc.76C>Tp.Arg26Ter~100% 31/28 4Navajo NM_005522​.5
NP_005513​.2 		Holve et al [2003], Tischfield et al [2005]
MPV17 Navajo neurohepatopathy
(MPV17-related mitochondrial DNA maintenance defect)		ARc.149G>Ap.Arg50Gln~100% 31/26 4Navajo (Western Navajo Nation) NM_002437​.5
NP_002428​.1 		Karadimas et al [2006], Bitting & Hanson [2016]
1/60 4Navajo (Eastern)
MYO5B Microvillus inclusion disease
(OMIM 251850)		ARc.1979C>Tp.Pro660Leu~100% 31/55 4Navajo NM_001080467​.3
NP_001073936​.1 		Schlegel et al [2018]
OCA2 Oculocutaneous albinism type 2 (OMIM 203200)ARg.103171_225796del
(c.1044+1363_2080-6952; 122.5-kb del,
incl exons 10-20)		--~100% 3~1/22Navajo NG_009846​.1 Yi et al [2003]
TNFRSF11B Paget's disease
(OMIM 239000)		ARg.119932595_120030098del97504
(~100 kb del, incl entire gene)		--~100% 3UnknownNavajo NG_012202​.1 Whyte et al [2002]
USB1 Poikiloderma with neutropenia ARc.499delAp.Thr160ProfsTer98~100% 3UnknownNavajo NM_024598​.4
NP_078874​.2 		Clericuzio et al [2011]

Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group

AR = autosomal recessive; MOI = mode of inheritance

1.

Does not conform to standard HGVS nomenclature

2.

Percentage does not account for the possibility of rare de novo pathogenic variants occurring in this population.

3.

To date, additional pathogenic variants in this gene have not been reported in individuals of Navajo descent.

4.

Calculated carrier frequency based on the incidence of the disorder in individuals of Navajo ancestry; estimated carrier frequency is not based on molecular testing of the population.

From: Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Navajo Population

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