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Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Hutterite Population

, MD and , PhD.

Author Information and Affiliations

Initial Posting: ; Last Revision: December 1, 2022.

Estimated reading time: 9 minutes

A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.

The table below includes common founder variants – here defined as three or fewer variants that account for more than 50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry – in individuals of Hutterite ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.

Table.

Genetic Disorders Associated with Founder Variants Common in the Hutterite Population

GeneDisorderMOIDNA Nucleotide ChangePredicted Protein ChangeProportion of Pathogenic Variants in GeneCarrier FrequencyLeut/Ethnicity (Specific Region)Reference SequencesReferences
ABCC8 Permanent neonatal diabetes mellitus ARSee footnote 1.–~100% 2UnknownSchmeideleut NM_000352​.4 Triggs-Raine et al [2016]
ABCG8 Sitosterolemia ARc.320C>Gp.Ser107Ter~100% 21/12 to 1/16Schmeideleut NM_022437​.2
NP_071882​.1 		Chong et al [2012], Triggs-Raine et al [2016]
ALPL Hypophosphatasia ARc.1001G>Ap.Gly334Asp~100% 2UnknownDariusleut NM_000478​.5
NP_000469​.3 		Triggs-Raine et al [2016]
AR Androgen insensitivity syndrome XLc.2033T>Cp.Leu678Pro~100% 2UnknownSchmiedeleut (Manitoba) NM_000044​.4
NP_000035​.2 		Belsham et al [1995]
BBS2 Bardet-Biedl syndrome ARc.472-2A>G–~100% 21/22 to 1/36Dariusleut & Schmiedeleut NM_031885​.3 Chong et al [2012], Triggs-Raine et al [2016]
BCHE Succinylcholine sensitivity (OMIM 617936)ARc.293A>Gp.Asp98Gly~100% 21/21Schmiedeleut NM_000055​.3
NP_000046​.1 		Zelinski et al [2007], Triggs-Raine et al [2016]
BCKDHB Maple syrup urine disease ARc.595_596delAGp.Pro200TerUnknownUnknownHutterite NM_183050​.3
NP_898871​.1 		Mroch et al [2014]
CFTR Cystic fibrosis ARc.1521_1523delCTTp.Phe508del31%1/33 to 1/45Dariusleut, Lehrerleut, & Schmiedeleut NM_000492​.3
NP_000483​.3 		Zielenski et al [1993], Chong et al [2012], Triggs-Raine et al [2016]
c.3302T>Ap.Met1101Lys69%1/14 to 1/16
CPT1A Carnitine palmitoyltransferase 1A deficiency ARc.2129G>Ap.Gly710Glu~100% 21/15 to 1/16Dariusleut & Schmiedeleut NM_001876​.3
NP_001867​.2 		Prasad et al [2001], Triggs-Raine et al [2016]
CSPP1 Joubert syndrome ARc.363_364delTAp.His121GlnfsTer22~100% 2UnknownSchmiedeleut NM_024790​.6
NP_079066​.5 		Shaheen et al [2014]
DNAJC19 Dilated cardiomyopathy with ataxia syndrome (OMIM 610198)ARc.130-1G>C–~100% 21/21 to 1/34Dariusleut, Lehrerleut, & Schmiedeleut NM_145261​.3 Davey et al [2006], Chong et al [2012], Triggs-Raine et al [2016]
DPH1 Louks-Innes syndrome (OMIM 616901)ARc.17T>Ap.Met6Lys~100% 21/32Dariusleut NM_001383​.4
NP_001374​.3 		Loucks et al [2015], Triggs-Raine et al [2016]
DSC2 Arrhythmogenic right ventricular cardiomyopathy ARc.1660C>Tp.Gln554Ter~100% 21/8 to 1/11Dariusleut, Lehrerleut, & Schmiedeleut NM_024422​.4
NP_077740​.1 		Gerull et al [2013], Wong et al [2014], Triggs-Raine et al [2016]
EMG1 Bowen-Conradi syndrome (OMIM 211180)ARc.257A>Gp.Asp86Gly~100% 21/10 to 1/21Dariusleut, Lehrerleut, & Schmiedeleut NM_006331​.7
NP_006322​.4 		Armistead et al [2009], Triggs-Raine et al [2016]
FKRP Limb-girdle muscular dystrophy type 2I (OMIM 607155)ARc.826C>Ap.Leu276Ile~100% 21/7 to 1/9Dariusleut, Lehrerleut, & Schmiedeleut NM_024301​.4
NP_077277​.1 		Frosk et al [2005], Chong et al [2012], Triggs-Raine et al [2016]
GJB2 GJB2-related autosomal recessive nonsyndromic hearing loss ARc.35delGp.Gly12ValfsTer2~100% 21/28 to 1/65Dariusleut & Schmiedeleut NM_004004​.5
NP_003995​.2 		Chong et al [2012], Triggs-Raine et al [2016]
LEMD2 Juvenile-onset cataract and arrhythmic cardiomyopathy (OMIM 212500)ARc.38T>Gp.Leu13Arg~100% 21/8Schmiedeleut, Lehrerleut NM_181336​.3
NP_851853​.1 		Boone et al [2015], Abdelfatah et al [2019]
LMNA Emery-Dreifuss muscular dystrophy ARc.1445G>Ap.Arg482Gln~100% 21/69Dariusleut & Lehrerleut (Alberta, Canada) NM_170707​.3
NP_733821​.1 		Wiltshire et al [2013]
MMUT Methylmalonic acidemia ARc.1420C>Tp.Arg474Ter~100% 21/63Dariusleut NM_000255​.3
NP_000246​.2 		Triggs-Raine et al [2016]
MYO7A Usher syndrome 1 ARc.52C>Tp.Gln18Ter~100% 2UnknownDariusleut NM_000260​.3
NP_000251​.3 		Chong et al [2012]
NDUFS4 Leigh syndrome ARc.393dupAp.Glu132ArgfsTer15~100% 21/13Dariusleut & Schmiedeleut NM_002495​.3
NP_002486​.1 		Triggs-Raine et al [2016]
PCDH15 Usher syndrome 1 ARc.1088delTp.Leu363TrpfsTer58~100% 21/21 to 1/40Schmeideleut 3 NM_033056​.3
NP_149045​.3 		Alagramam et al [2001], Chong et al [2012]
PIBF1 Joubert syndrome ARc.1910A>Cp.Asp637Ala~100% 2UnknownSchmiedeleut NM_006346​.3
NP_006337​.2 		Wheway et al [2015]
PROP1 PROP1-related combined pituitary hormone deficiency ARc.301_302delAGp.Leu102CysfsTer8~100% 2UnknownHutterite NM_006261​.4
NP_006252​.3 		Wu et al [1998]
SLC39A8 Congenital disorder of glycosylation type IIn ARc.112G>Cp.Gly38Arg~100% 21/59Lehrerleut NM_022154​.5
NP_071437​.3 		Boycott et al [2015]
1/26Dariusleut
SLC5A5 Thyroid dyshormonogenesis I (OMIM 274400)ARc.1183G>Ap.Gly395Arg~100% 2UnknownDariusleut, Lehrerleut, & Schmiedeleut NM_000453​.2
NP_000444​.1 		Kosugi et al [1999]
SMN1 Spinal muscular atrophy type IIIARDel entire gene 4–<100% 51/8Lehrerleut, Schmeideleut (South Dakota) 3 NM_000344​.3
NP_000335​.1 		Chong et al [2011]
SQOR Leigh syndrome ARc.637G>Ap.Glu213Lys~100% 21/13Lehrerleut NM_021199​.4
NP_067022​.1 		Friederich et al [2020]
TECR Nonsyndromic mental retardation (OMIM 614020)ARc.545C>Tp.Pro182Leu~100% 21/14 to 1/63Schmeideleut NM_138501​.5
NP_612510​.1 		Chong et al [2012], Triggs-Raine et al [2016]
TH Tyrosine hydroxylase deficiency ARc.1481C>Tp.Thr494Met~100% 2UnknownDariusleut NM_199292​.2
NP_954986​.2 		Boycott et al [2008]
THOC6 Beaulieu-Boycott-Innes syndrome ARc.136G>Ap.Gly46Arg~100% 21/33Dariusleut NM_024339​.4
NP_0778315​.2 		Beaulieu et al [2013]
1/50Lehrerleut
TMEM237 Joubert syndrome ARc.52C>Tp.Arg18Ter~100% 21/12.5Schmiedeleut NM_001044385​.2
NP_001037850​.1 		Chong et al [2012]
1/17Canadian Hutterites Huang et al [2011]
TRAPPC11 Limb-girdle muscular dystrophy type 18 (OMIM 615356)ARc.1287+5G>Ap.Ala372_Ser429del~100% 11/8 to 1/14Dariusleut & Schmeideleut NM_021942​.5 Bögershausen et al [2013], Triggs-Raine et al [2016]
TRIM32 Limb-girdle muscular dystrophy type 2H (OMIM 254110)ARc.1459G>Ap.Asp487Asn~100% 21/6.5 to 1/31Dariusleut, Lehrerleut, & Schmiedeleut NM_012210​.3
NP_036342​.2 		Chong et al [2012], Triggs-Raine et al [2016]
TYR Oculocutaneous albinism type 1 (OMIM 203100, 606952)ARc.272G>Ap.Cys91Tyr~100% 21/7 to 1/9Dariusleut, Lehrerleut, & Schmiedeleut NM_000372​.4
NP_000363​.1 		Chong et al [2012], Triggs-Raine et al [2016]
VLDLR VLDLR cerebellar hypoplasia ARDel entire gene
Chr9:2479657-2678818del		–~100% 21/15Lehrerleut & DariusleutNC_000009​.12
(GRCh18.p13)		 Glass et al [2005]
ZMPSTE24 Restrictive dermopathy (OMIM 275210)ARc.1085dupTp.Leu362PhefsTer19~100% 21/15.5 to 1/21Dariusleut, Lehrerleut, & Schmiedeleut NM_005857​.4
NP_005848​.2 		Loucks et al [2012], Chong et al [2012]

Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group; see also www​.biochemgenetics.ca/plainpeople.

1.

The c.823-7T>A variant is reported in Triggs-Raine et al [2016], attributed to a personal communication. No data regarding the pathogenicity of the variant are provided.

2.

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

3.

Carrier frequency reported in Schmiedeleut population residing in United States [Chong et al 2011, Chong et al 2012, Gerull et al 2013]; carrier frequency in Lehrerleut and Dariusleut not reported to date

4.

Individuals of Hutterite ancestry with SMN1 founder deletion have 0 SMN1 and 2 SMN2 copies per chromosome.

5.

De novo pathogenic variants have been reported in Hutterite population [Chong et al 2011].

Revision History

  • 1 December 2022 (sw) Revision: removed NPHP1 variants
  • 7 May 2020 (sw) Initial posting

References

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