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Remember vocabulary drills in elementary school? Spell the word. Define the word. Use it in a sentence. Where those words had no necessary relation to each other, the words in this vocabulary drill have one thing in common: They are the terms used by the mental health professionals to discuss bipolar disorder, treatments, and related topics. Think of this section as a glossary for the layperson. That this remarkable type of ARCI can also be found in patients from Europe and the Mediterranean area, and by ultrastructural, enzymatic and molecular genetic studies, we show that BSI is caused by TGase-1 deficiency. Sequencing analyses confirmed TGM1 mutations in BSI individuals: We have ascertained a group of 10 BSI individuals from independent families. Altogether, we identified 13 mutations in TGM1--10 different missense, two nonsense mutations and one splice-site mutation Table 1 ; . The mutations Arg126Cys, Arg264Trp, Arg264Gln, Tyr276Asn, Arg307Gly, Arg315His, Ser358fsX26 and Arg687His are here reported for the first time Table 2 ; . Three index patients showed a homozygous genotype, the others were compound heterozygous. Regarding the genotypes of the patients in more detail, it is of note that there are particular residues affected more than once within this BSI group: Arg307Gly is present in three, Arg264Trp or Arg264Gln in two, and Arg315Cys or Arg315His also in two independent patients. Tyr276Asn is only observed in Patient 1 but located close to the mutations at Arg264. The residues affected by a missense mutation are all located within the first part of the TGase-1 core domain Fig. 9 ; . As exception, Arg126Cys reported in Patient 2 is located in the b-sandwich domain, and Arg687His only reported in Patient 7 affects a residue exactly between b-barrel 1 and b-barrel 2. The AG mutation in the splice acceptor of intron 5 c.877-2A.G ; has been reported to result in two different mRNA transcripts--one retaining intron 5 and the other one only leading to a G nucleotide insertion between exon 5 and 6. Both transcripts lead to a premature termination codon 2224 ; . Their translation products as well as the translation products of the mutations Ser358fsX26 and Trp263X are unlikely to be functional 22 26, 31 ; . We suggest that these nonsense mutations predispose for the generalized and severe ; type of ARCI due to TGase-1 deficiency. This association may also account for missense mutations such as Arg142His and Arg389Pro Fig. 9 ; . Regarding the almost normal TGase activity in healthy BSI skin, we conclude that the missense mutations--being present on at least one allele in all BSI patients--produce a functional active protein Table 2 ; . For instance, Patient 6 shows the nonsense mutation Ser358fsX26 coding for a non-functional TGase-1 protein and the missense mutation Arg264Gln, which apparently codes an enzyme with sufficient residual activity as far as the healthy skin areas are concerned Table 1 ; . Regarding the particular skin phenotype of BSI it is important to note that a genetic mosaicism caused by TGM1 mutations of post-zygotic origin can be clearly ruled out. Generalized ichthyosis at birth together with an autosomal recessive trait and the present distribution pattern of affected and healthy skin do not fit to the concept of cutaneous mosaicism 39 ; . From the clinical point of view, BSI is reminiscent of the self-healing collodion baby SHCB ; , in which, likewise, a specific TGM1 mutation has been identified in one family 19 ; . In the past, single cases of LI have been reported, which in retrospect have to be categorized as having mild BSI. The first report concerns a patient with the heterozygous mutation Val382Met 40 ; , two other patients with LI `mainly on the trunk' were described for the heterozygous mutation Arg307Trp 27, 28 ; , whereas the heterozygous mutation Arg307Gly was found in Patients 4, 5 and 9 reported here.

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