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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2021 Dec 2;108(12):2386–2388. doi: 10.1016/j.ajhg.2021.11.009

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S Adamo, Aude Beyens, Steffen Lütke, Piyanoot Tapaneeyaphan, Adelbert De Clercq, Phil L Salmon, Riet De Rycke, Alper Gezdirici, Elif Yilmaz Gulec, Naz Khan, Jill E Urquhart, William G Newman, Kay Metcalfe, Stephanie Efthymiou, Reza Maroofian, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Ikhlass Altweijri, Monerah Alsaleh, Sawsan Mohamed Abdullah, Mohammad Al-Owain, Mais Hashem, Henry Houlden, Fowzan S Alkuraya, Patrick Sips, Gerhard Sengle, Bert Callewaert
PMCID: PMC8715164  PMID: 34861177

(The American Journal of Human Genetics 108, 1095–1114; June 3, 2021)

In the originally published version of this article, we describe an LTBP1 variant (GenBank: NM_206943.4) (c.3991_3995del [p.Thr1331Asnfs20]) present in family 3. Unfortunately, we discovered that this variant description was wrong and should be corrected as LTBP1 variant (GenBank: NM_206943.4) c.3991dup (p.Thr1331Asnfs22). The incorrect variant was included in Figure 2 and Figure S1, which appear corrected here and have been corrected online. Other instances of the incorrect variant in the main text of the article and the supplemental information have also been corrected online. We thank Sally Heywood (Professional Specialist - Bioinformatics, Human Gene Mutation Database, Cardiff University School of Medicine, Division of Cancer and Genetics) for identifying this error. The correction does not influence other results or conclusions in any way. All authors regret this error and apologize for the inconvenience.

Figure 2.

Figure 2

Schematic representation of the premature truncating variants in LTBP1 and corresponding protein in four unrelated consanguineous families (corrected)

Figure 2.

Figure 2

Schematic representation of the premature truncating variants in LTBP1 and corresponding protein in four unrelated consanguineous families (original)

Figure S1.

Figure S1

Pedigrees of the reported families (corrected)

Figure S1.

Figure S1

Pedigrees of the reported families (original)


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